Results 131 to 140 of about 8,409,709 (279)

X-linked intellectual disability related genes disrupted by balanced X-autosome translocations

, 2015
Detailed molecular characterization of chromosomal rearrangements involving X-chromosome has been a key strategy in identifying X-linked intellectual disability-causing genes.
Meloni, Vera Ayres, Bragagnolo, Silvia, Kosyakova, Nadezda, Carvalheira, Gianna Maria, Melaragno, Maria Isabel, de Mello, Claudia Berlim, Di Battista, Adriana, Guilherme, Roberta Santos, Liehr, Thomas, Moretti-Ferreira, Danilo [UNESP], Moysés-Oliveira, Mariana   +10 more
core   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Establishment of a human induced pluripotent stem cell line, KMUGMCi009-A, from a patient bearing a missense mutation in the MED12 gene leading X-linked Ohdo syndrome

Stem Cell Research
X-linked Ohdo syndrome is a heterogenous group of disorders characterized by intellectual disability and typical facial features including blepharophimosis.
Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida   +3 more
doaj   +1 more source

Chromatin Sensing by the Auxiliary Domains of KDM5C Regulates Its Demethylase Activity and Is Disrupted by X-linked Intellectual Disability Mutations. [PDF]

J Mol Biol, 2023
Ugur FS, Kelly MJS, Fujimori DG.
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

The concept of sexual exploitation in legislation relating to persons with intellectual disability [PDF]

, 2006
The focus of this paper is on the use of the concept of sexual exploitation in legislation concerning sexual expression by persons with mental impairment, with particular emphasis on persons with intellectual disability.
Graydon, C.M., Hall, G., O'Brien-Malone, A   +2 more
core  

Rethinking Support Allocation: Mental Health and Patterns of Homelessness Support Utilisation

Australian Journal of Social Issues, EarlyView.
ABSTRACT Homelessness support agencies face substantial puzzles in allocating scarce resources: who gets access and who stays on the waitlist? This paper examines the influence of mental illness on the patterns of consuming non‐clinical homelessness support by persons experiencing homelessness and at risk.
Godwin Kavaarpuo, Kathryn Daley
wiley   +1 more source

Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene

Stem Cell Research
X-linkded Ohdo syndrome is characterized mainly by intellectual disability, delays in reaching development, feeding difficulties, thyroid dysfunction, and dysmorphic appearance with blepharophimosis, immobile mask-like face and bulbous nose. The X-linked
Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida   +3 more
doaj   +1 more source

A Novel Mutation in ATRX Causes Alpha-Thalassemia X-Linked Intellectual Disability Syndrome in a Han Chinese Family. [PDF]

Front Pediatr, 2021
Wu S, Zheng Y, Xu C, Fu J, Xiong F, Yang F.   +5 more
europepmc   +1 more source

The mechanism of labor in nonhuman primates: A look inside

The Anatomical Record, EarlyView.
Abstract While in humans, the flexed position of the fetus and its rotating course down the birth canal are well documented, in other primates the mechanism of labor is unknown. Despite the lack of comparative data, it is commonly assumed that the human obstetric mechanism is unique, and anthropologists have disputed when and why the transition to the ...
Melissa K. Stoller
wiley   +1 more source